| syndroom van cerebellaire hypoplasie, verstandelijke beperking, congenitale microcefalie, dystonie, anemie en groeiretardatie (aandoening) | | syndroom van cerebellaire hypoplasie, verstandelijke beperking, congenitale microcefalie, dystonie, anemie en groeiretardatie | | CIMDAG-syndroom
syndroom van cerebellaire hypoplasie, verstandelijke handicap, congenitale microcefalie, dystonie, anemie en vertraagde groei
syndroom van cerebellaire hypoplasie, mentale retardatie, congenitale microcefalie, dystonie, anemie en groeiachterstand
| | CIMDAG syndrome | | Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome
CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation) syndrome
| | A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness. |
| | Id | 1332508004 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | Q04.8 | | Rule | TRUE | | Advice | ALWAYS Q04.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
